Modifying effect of XmnI, BCL11A, and HBS1L-MYB on clinical appearances: A study on β-thalassemia and hemoglobin E/β-thalassemia patients in Indonesia | Zendy

Lantip Rujito | Zendy; Muhammad Ridwan Basalamah | Zendy; Wahyu Siswandari | Zendy; Joko Setyono | Zendy; Gondo Wulandari | Zendy; Sri Mulatsih | Zendy; Abdul Salam M. Sofro | Zendy; Ahmad Hamim Sadewa | Zendy; Sutaryo Sutaryo | Zendy

Open Access

Modifying effect of XmnI, BCL11A, and HBS1L-MYB on clinical appearances: A study on β-thalassemia and hemoglobin E/β-thalassemia patients in Indonesia

Author(s) -

Lantip Rujito,

Muhammad Ridwan Basalamah,

Wahyu Siswandari,

Joko Setyono,

Gondo Wulandari,

Sri Mulatsih,

Abdul Salam M. Sofro,

Ahmad Hamim Sadewa,

Sutaryo Sutaryo

Publication year - 2016

Publication title -

hematology/oncology and stem cell therapy

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.666

H-Index - 22

eISSN - 1658-3876

pISSN - 2589-0646

DOI - 10.1016/j.hemonc.2016.02.003

Subject(s) - fetal hemoglobin , locus (genetics) , genotyping , thalassemia , hemoglobin e , allele , genetics , beta thalassemia , biology , hemoglobin f , medicine , genotype , fetus , gene , pregnancy

Thalassemia is a monogenic hematologic disease that has the highest prevalence globally. In addition, there is complexity of the genetic background associated with a variety of phenotypes presented among patients. Genetic heterogeneity related to fetal hemoglobin (HbF) production has been reported as an influencing phenotypic factor of β-thalassemia (β-thal). Therefore, this study aimed to find the effect of these genetic modifiers, especially in the XmnI locus, rs11886868, rs766432 (BCL11A), and rs9399137 (HBS1L-MYB), among β-thal and HbE/β-thal patients in Indonesia, according to laboratory and clinical outcomes, including HbF levels and clinical scores. This study was also designed to compare these modifying effects among β-thal and HbE/β-thal patients in Indonesia.

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